Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D239N

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain
Myosin_headaa 87–766UCSCMyosin head (motor domain)
Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
48 papers
NM_000257.4
p.D239N
c.715G>A
Surrounding Variants
1 paper
NM_000257.4
p.N238K
c.714C>G
1 paper
NM_000257.4
p.N238K
c.714C>A
1 paper
NM_000257.4
p.D239E
c.717C>G
7 papers
NM_000257.4
p.D239del1
c.715_716delGTC
1 paper
NM_000257.4
p.N240S
c.719A>G
8 papers
NM_000257.4
p.R237Q
c.710G>A
13 papers
NM_000257.4
p.R237W
c.709C>T
1 paper
NM_000257.4
p.S241F
c.722C>T
2 papers
NM_000257.4
p.V236A
c.707T>C
1 paper
NM_000257.4
p.S242P
c.724T>C
2 papers
NM_000257.4
p.V236I
c.706G>A
2 papers
NM_000257.4
p.S242C
c.725C>G
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